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| http://dx.doi.org/10.4088/PCC.15l01859 | DOI Listing |
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Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia as a Presentation of a Novel DNMT1 Mutation.
Cerebellum
January 2025
Department of Neurology, Division of Neuro-Visual & Vestibular Disorders, The Johns Hopkins University School of Medicine, Johns Hopkins Hospital, 600 N. Wolfe Street, Baltimore, MD, USA.
A 50-year-old woman with a 20-year history of gait instability presented with new-onset vertigo and oscillopsia. Examination revealed bilateral vestibular loss, cerebellar ataxia, sensory neuropathy, a "yes-yes" head tremor, nystagmus and a family history of a similar syndrome. Genetic testing for cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (RFC1) was negative, but whole exome sequencing identified a novel mutation in the DNA methyltransferase 1 (DNMT1) gene, broadening the differential diagnosis for this phenotype.
View Article and Find Full Text PDFVery late onset narcolepsy type 1: a case report and review of the literature.
J Clin Sleep Med
December 2024
Geriatric Psychiatry, University Psychiatric Center KU Leuven, Leuven, Belgium.
Narcolepsy type 1 (NT1) is a clinical syndrome defined by recurrent episodes of excessive daytime sleepiness (EDS), episodes of cataplexy, hypnagogic hallucinations, and sleep paralysis. Symptoms typically manifest in the second or third decade with another small peak in the fourth decade. In this report we describe the case of a 64-year-old woman presenting with new-onset visual hallucinations as the main complaint.
View Article and Find Full Text PDFEfficacy and safety of surgical management for Rathke's cleft cysts in pediatric patients: a systematic review and meta-analysis.
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December 2024
Department of Neurosurgery, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Rathke's cleft cysts (RCCs) are benign, cystic lesions that account for less than 5% of cases in the pediatric population. While asymptomatic RCCs often require only conservative management, symptomatic cases may necessitate surgical intervention. Advances in surgical techniques have improved the safety of these procedures.
View Article and Find Full Text PDFComparative effectiveness of various orbital decompression techniques in treating thyroid-associated ophthalmopathy: a systematic review and meta-analysis.
BMC Ophthalmol
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Beijing Tongren Eye Center, and Beijing Ophthalmology Visual Science Key Lab, Beijing Tongren Hospital, Capital Medical University, No.1 Dong Jiao Min Xiang, Beijing, 100730, China.
Background: In thyroid-associated ophthalmopathy (TAO), orbital decompression is a critical surgical approach for functional and aesthetic reasons. Meanwhile, the presence of surgical complications, especially the new onset of primary gaze diplopia, also influences postoperative patient satisfaction. This research investigates the effectiveness and potential risks associated with different orbital decompression in patients with TAO.
View Article and Find Full Text PDFComprehensive analysis of differentially expressed genes in toll-like receptor signalling pathway: Insights into new-onset microscopic polyangiitis.
Microb Pathog
December 2024
Department of Nephrology, The Second Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, PR China. Electronic address:
Objective: We aimed to elucidate the potential contributions of the toll-like receptor (TLR) signalling pathway and identify promising candidates for new-onset microscopic polyangiitis (MPA) using integrated bioinformatics analysis.
Methods: A PCR array was used to determine the expression profiles of TLR signalling-related genes in CD4T lymphocytes of individuals with new-onset MPA and healthy controls. Four genes were selected for validation through real-time quantitative polymerase chain reaction (RT-qPCR).
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